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Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Dem-Aging: autophagy-related pathologies and the “two faces of dementia”
Neuronal ceroid lipofuscinosis (NCL) is an umbrella term referring to the most frequent childhood-onset neurodegenerative ...
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Atypical retinopathy in ataxia with vitamin E deficiency: report of a sibship
Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (A...
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
GLUT-1DS resistant to ketogenic diet: from clinical feature to in silico analysis. An exemplificative case report with a literature review
Glucose transporter type 1 deficiency syndrome (GLUT-1DS) is characterized by alterations in glucose translocation through...
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Bi-allelic variants in HCRT cause autosomal recessive narcolepsy
Narcolepsy with cataplexy is a complex disease with both genetic and environmental risk factors. To gain further insight i...
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Intragenic homozygous duplication in HEPACAM is associated with megalencephalic leukoencephalopathy with subcortical cysts type 2A
Disease-causing variants in HEPACAM are associated with megalencephalic leukoencephalopathy with subcortical cysts 2A (MLC...
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review
Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders...
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families
Congenital muscular dystrophies (CMDs) are a group of rare muscle disorders characterized by early onset hypotonia and mot...
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis type 46 (SPG46): new GBA2 variants in a large Italian case series and review of the literature
Hereditary spastic paraparesis (HSP) is a group of central nervous system diseases primarily affecting the spinal upper mo...
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Genomic evidence for the suitability of Göttingen Minipigs with a rare seizure phenotype as a model for human epilepsy
Epilepsy is a complex genetic disorder that affects about 2% of the global population. Although the frequency and severity...
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Gene–gene interaction network analysis indicates CNTN2 is a candidate gene for idiopathic generalized epilepsy
Twin and family studies have established the genetic contribution to idiopathic generalized epilepsy (IGE). The genetic ar...
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
DYT-THAP1: exploring gene expression in fibroblasts for potential biomarker discovery
Dystonia due to pathogenic variants in the THAP1 gene (DYT-THAP1) shows variable expressivity and reduced penetrance of ~&...
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Early onset epileptic and developmental encephalopathy and MOGS variants: a new diagnosis in the whole exome sequencing (WES) ERA
Mannosyl-oligosaccharide glucosidase – congenital disorder of glycosylation (MOGS-CDG) is determined by biallelic mu...
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Two novel cases of biallelic SMPD4 variants with brain structural abnormalities
Sphingomyelin phosphodiesterase 4 (SMPD4) encodes a member of the Mg2+-dependent, neutral sphingomyelinase family that cat...
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Lethal variant in the C2A domain may cause severe SYT1-associated neurodevelopmental disorder in the newborns
Synaptotagmin-1 (SYT1) plays a pivotal role in regulating presynaptic processes, including neurotransmitter release. SYT1 ...
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
RETRACTED ARTICLE: Clinical characterization of familial 1p36.3 microduplication
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been re...
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Retraction Note: Clinical characterization of familial 1p36.3 microduplication
Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which...
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Correction to: High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Myelin Disorders Clinic, Pediatric Neurology Division, Children’s Medical Center, Pediatrics Center of Excellence, Tehran ...
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity
Intellectual disability (ID), occurring in syndromic or non-syndromic forms, is the most common neurodevelopmental disorde...
Adult-onset Alexander disease among patients of Jewish Syrian descent
Adult-onset Alexander disease among patients of Jewish Syrian descent
Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrilla...
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light
Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully und...
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
High genetic heterogeneity of leukodystrophies in Iranian children: the first report of Iranian Leukodystrophy Registry
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involv...
Clinical and functional study of two de novo variations of CDKL5 gene
Clinical and functional study of two de novo variations of CDKL5 gene
The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental...
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene
Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a fa...
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
A novel heterozygous ZBTB18 missense mutation in a family with non-syndromic intellectual disability
Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired adaptive beha...
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review
Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia (HSP) caused by calpain-1 (CAPN1) mutatio...
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Novel mutations and molecular pathways identified in patients with brain iron accumulation disorders
Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nucle...
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
Novel potentially pathogenic variants detected in genes causing intellectual disability and epilepsy in Polish families
Intellectual disability (ID) affects 1–3% of the world population. The number of genes whose dysfunctions cause inte...
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
PSEN1/SLC20A2 double mutation causes early-onset Alzheimer’s disease and primary familial brain calcification co-morbidity
Primary familial brain calcification (PFBC; formerly Fahr’s disease) and early-onset Alzheimer’s disease (EOAD...
Clinical characterization of familial 1p36.3 microduplication
Clinical characterization of familial 1p36.3 microduplication
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been re...
Response to a letter to the editor
Response to a letter to the editor
Huynh M-T, Gérard M, Ranguin K, Pichon O, Ghesh L, Alfallaj K, Joubert M, Bézieau S, Bénéteau C (2021) Novel interstitial ...
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